Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865300 | SCV001006242 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2021-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001533923 | SCV001750799 | likely benign | not provided | 2020-12-04 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816970 | SCV002065032 | uncertain significance | not specified | 2017-09-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169117 | SCV003857252 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-03-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |